SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: Case report
Yükleniyor...
Dosyalar
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer Heidelberg
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
SERAC1 (Serine active site-containing 1, MIM: 614725) gene is located on chromosome 6q25.3. SERAC1 protein is a membrane protein containing 654 amino acids. It contains a serine lipase domain and belongs to the PGAG-like protein family, which plays a crucial role in mitochondrial function. SERAC1 protein has a role in intracellular cholesterol and phospholipid trafficking of action [1]. SERAC1 mutations as the cause of MEGD(H)EL syndrome (MIM: 614739) are an autosomal recessive mitochondrial disease associated with 3-methylglutaconic aciduria, dystonia, deafness, (hepatopathy), encephalopathy, with Leigh-like syndrome.
Açıklama
Anahtar Kelimeler
3-MGA, Alpha Fetoprotein, MEGDHEL, Mitochondrial Diseases, SERAC1
Kaynak
Acta Neurologica Belgica
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
Sayı
Künye
Bayrak, H., Sezer, A., Danış, A., Özhan, S. H., Yıldız, H., & Kılıç, M. (2023). SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report. Acta Neurologica Belgica, 1-3.
